Summary: 

This week on The Genetics Podcast, Patrick is joined by Justin Porcano, co-founder and Executive Director of Save Sight Now. They discuss how his daughter’s diagnosis with Usher syndrome type 1B (USH1B) inspired the founding of Save Sight Now, the organization’s efforts to accelerate research and overcome barriers in gene therapy, and the innovative gene delivery methods and therapeutic approaches currently in development.

Show Notes: 

0:00 Intro to The Genetics Podcast

00:59 Welcome to Justin

01:39 How Justin’s daughter’s Usher syndrome diagnosis (USH1B) led to the founding of Safe Sight Now and a mission to accelerate research

05:23 Biggest hurdles to therapeutic development for USH1B

08:36 Progress in the research with new animal models and advances in clinical endpoint development

10:25 How Justin applied design thinking and AI to rapidly learn rare disease science

12:38 Advances in gene delivery approaches for USH1B

15:45 Therapeutic intervention windows in USH1B with early treatment for hearing loss and later options for addressing vestibular and visual impairments

18:32 Save Sight Now’s plans for the next phase of clinical translation and sustainable growth

20:50 Why Justin decided to establish Save Sight Now as an independent nonprofit

22:27 The need for stronger collaboration between patient organizations and biotech companies

25:50 Building global collaborations to expand Save Sight Now’s reach

28:00 How the community can support Save Sight Now’s mission and upcoming fundraising gala

28:59 Closing remarks

Find out more

• Save Sight Now (https://www.savesightnow.org/)

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